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rs727504350

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504350(G;T)
Make rs727504350(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position101401694
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs727504350
ebirs727504350
HLIrs727504350
Exacrs727504350
Varsomers727504350
Maprs727504350
PheGenIrs727504350
hapmaprs727504350
1000 genomesrs727504350
hgdprs727504350
ensemblrs727504350
gopubmedrs727504350
geneviewrs727504350
scholarrs727504350
googlers727504350
pharmgkbrs727504350
gwascentralrs727504350
openSNPrs727504350
23andMers727504350
23andMe allrs727504350
SNP Nexus

SNPshotrs727504350
SNPdbers727504350
MSV3drs727504350
GWAS Ctlgrs727504350
Max Magnitude0
ClinVar
Risk rs727504350(T;T)
Alt rs727504350(T;T)
Reference rs727504350(G;G)
Significance Pathogenic
Disease not specified Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN not specified Fabry disease
Reversed 1
HGVS NC_000023.10:g.100656682C>A; NC_000023.10:g.100656682C>T
CLNSRC
CLNACC RCV000154471.1, RCV000176999.1,